Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience

被引：37

作者：

Faas, Brigitte H. W. ^{[1
]}

Feenstra, Ilse ^{[1
]}

Eggink, Alex J. ^{[2
,3
]}

Kooper, Angelique J. A. ^{[1
]}

Pfundt, Rolph ^{[1
]}

van Vugt, John M. G. ^{[2
]}

de Leeuw, Nicole ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Med Ctr, Dept Obstet & Gynecol, NL-6525 ED Nijmegen, Netherlands

[3] Univ Med Ctr Rotterdam, Erasmus MC, Dept Obstet & Gynecol, Rotterdam, Netherlands

来源：

PRENATAL DIAGNOSIS | 2012年 / 32卷 / 04期

关键词：

Array CGH; General cytogenetics; GENETIC COUNSELLING; non-targeted; whole genome; SNP array; PRENATAL-DIAGNOSIS; HYBRIDIZATION ACGH; IDENTIFICATION; ABNORMALITIES; PREGNANCIES;

D O I：

10.1002/pd.2948

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Objective We evaluated both clinical and laboratory aspects of our new strategy offering quantitative fluorescence (QF)-PCR followed by non-targeted whole genome 250K single-nucleotide polymorphism array analysis instead of routine karyotyping for prenatal diagnosis of fetuses with structural anomalies. Methods Upon the detection of structural fetal anomalies, parents were offered a choice between QF-PCR and 250K single-nucleotide polymorphism array analysis (QF/array) or QF-PCR and routine karyotyping (QF/karyo). Results Two hundred twenty fetal samples were included. In 153/220 cases (70%), QF/array analysis was requested. In 35/153 (23%), an abnormal QF-PCR result was found. The remaining samples were analyzed by array, which revealed clinically relevant aberrations, including two known microdeletions, in 5/118 cases. Inherited copy number variants were detected in 11/118 fetuses, copy number variants with uncertain clinical relevance in 3/118 and homozygous stretches in 2/118. In 67/220 (30%) fetuses, QF/karyo was requested: 23/67 (34%) were abnormal with QF-PCR, and in 3/67, an abnormal karyotype was found. Conclusion Even though QF/array does not reveal a high percentage of submicroscopic aberrations in fetuses with unselected structural anomalies, it is preferred over QF/karyo, as it provides a whole genome scan at high resolution, without additional tests needed and with a low chance on findings not related to the ultrasound anomalies. (C) 2012 John Wiley & Sons, Ltd.

引用

页码：362 / 370

页数：9

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